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Familial apical hypertrophic cardiomyopathy with aneurysmal evolution--an unusual form

Maria Isabel Sá1, Sofia Cabral, A Hipólito Reis

  • 1Serviço de Cardiologia, Hospital Geral de Santo António, Porto, Portugal. isabelpsa@portugalmail.pt

Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology
|March 9, 2007
PubMed

Insights

This case study highlights a rare presentation of apical hypertrophic cardiomyopathy mimicking myocardial infarction. Genetic confirmation and familial screening were key to diagnosing this unusual cardiac remodeling.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Imaging

Background:

  • Acute coronary syndrome is a common presentation in patients with vascular risk factors.
  • Left apical pseudoaneurysm is a rare complication, often associated with myocardial infarction.

Observation:

  • A 76-year-old patient presented with symptoms of acute coronary syndrome.
  • Initial echocardiogram suggested a left apical pseudoaneurysm in the context of myocardial infarction.
  • Atypical apical hypertrophy and familial screening suggested apical hypertrophic cardiomyopathy.

Findings:

  • Genetic study confirmed apical hypertrophic cardiomyopathy.
  • The patient's presentation evolved into a ventricular aneurysm due to progressive left ventricular apical remodeling.
  • This represents a rare phenotypic expression of apical hypertrophic cardiomyopathy.

Implications:

  • Early diagnosis of apical hypertrophic cardiomyopathy is crucial, even with atypical presentations.
  • Echocardiography plays a vital role in identifying characteristic features of this condition.
  • Understanding familial associations aids in early detection and management of hypertrophic cardiomyopathy.

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